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Spinal muscular atrophy(SMA)

MedGen UID:
7755
Concept ID:
C0026847
Disease or Syndrome
Synonyms: SMA; Spinal Muscular Atrophy (SMN1); Spinal Muscular Atrophy (SMN2)
SNOMED CT: SMA - Spinal muscular atrophy (5262007); Spinal muscular atrophy (5262007)
 
Genes (locations): GEMIN2 (14q21.1); SMN1 (5q13.2); SMNDC1 (10q25.2)
Related gene: SMN2
 
HPO: HP:0007269
Monarch Initiative: MONDO:0001516

Disease characteristics

Excerpted from the GeneReview: Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal greater than distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of the disease. [from GeneReviews]
Authors:
Thomas W Prior  |  Meganne E Leach  |  Erika L Finanger   view full author information

Conditions with this feature

Kugelberg-Welander disease
MedGen UID:
101816
Concept ID:
C0152109
Disease or Syndrome
Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of this disease.
Spinal muscular atrophy, type II
MedGen UID:
95975
Concept ID:
C0393538
Disease or Syndrome
Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of this disease.
Scapuloperoneal spinal muscular atrophy
MedGen UID:
148283
Concept ID:
C0751335
Disease or Syndrome
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
MedGen UID:
371854
Concept ID:
C1834569
Disease or Syndrome
The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). Classic FD is characterized by onset in the first weeks of life of painful, progressive deformity of the major joints; palpable subcutaneous nodules of joints and mechanical pressure points; and a hoarse cry resulting from granulomas of the larynx and epiglottis. Life expectancy is usually less than two years. In the other less common types of FD, onset, severity, and primary manifestations vary. SMA-PME is characterized by early-childhood-onset progressive lower motor neuron disease manifest typically between ages three and seven years as proximal lower-extremity weakness, followed by progressive myoclonic and atonic seizures, tremulousness/tremor, and sensorineural hearing loss. Myoclonic epilepsy typically begins in late childhood after the onset of weakness and can include jerking of the upper limbs, action myoclonus, myoclonic status, and eyelid myoclonus. Other findings include generalized tremor, and cognitive decline. The time from disease onset to death from respiratory complications is usually five to 15 years.
Spinal muscular atrophy, type IV
MedGen UID:
325364
Concept ID:
C1838230
Disease or Syndrome
Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of this disease.
Neuronopathy, distal hereditary motor, autosomal dominant 8
MedGen UID:
373984
Concept ID:
C1838492
Disease or Syndrome
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.
Pontocerebellar hypoplasia type 1A
MedGen UID:
335969
Concept ID:
C1843504
Disease or Syndrome
Pontocerebellar hypoplasia (PCH) refers to a group of severe neurodegenerative disorders affecting growth and function of the brainstem and cerebellum, resulting in little or no development. Different types were classified based on the clinical picture and the spectrum of pathologic changes. PCH type 1 is characterized by central and peripheral motor dysfunction associated with anterior horn cell degeneration resembling infantile spinal muscular atrophy (SMA; see SMA1, 253300); death usually occurs early. Genetic Heterogeneity of Pontocerebellar Hypoplasia Also see PCH1B (614678), caused by mutation in the EXOSC3 gene (606489); PCH1C (616081), caused by mutation in the EXOSC8 gene (606019); PCH1D (618065), caused by mutation in the EXOSC9 gene (606180); PCH1E (619303), caused by mutation in the SLC25A46 gene (610826); PCH1F (619304), caused by mutation in the EXOSC1 gene (606493); PCH2A (277470), caused by mutation in the TSEN54 gene (608755); PCH2B (612389), caused by mutation in the TSEN2 gene (608753); PCH2C (612390), caused by mutation in the TSEN34 gene (608754); PCH2D (613811), caused by mutation in the SEPSECS gene (613009); PCH3 (608027), caused by mutation in the PCLO gene (604918); PCH4 (225753), caused by mutation in the TSEN54 gene; PCH5 (610204), caused by mutation in the TSEN54 gene; PCH6 (611523), caused by mutation in the RARS2 gene (611524); PCH7 (614969), caused by mutation in the TOE1 gene (613931); PCH8 (614961), caused by mutation in the CHMP1A gene (164010); PCH9 (615809), caused by mutation in the AMPD2 gene (102771); PCH10 (615803), caused by mutation in the CLP1 gene (608757); PCH11 (617695), caused by mutation in the TBC1D23 gene (617687); PCH12 (618266), caused by mutation in the COASY gene (609855); PCH13 (618606), caused by mutation in the VPS51 gene (615738); PCH14 (619301), caused by mutation in the PPIL1 gene (601301); PCH15 (619302), caused by mutation in the CDC40 gene (605585); PCH16 (619527), caused by mutation in the MINPP1 gene (605391); and PCH17 (619909), caused by mutation in the PRDM13 gene (616741) on chromosome 6q16.
Infantile-onset X-linked spinal muscular atrophy
MedGen UID:
337123
Concept ID:
C1844934
Disease or Syndrome
X-linked infantile spinal muscular atrophy (XL-SMA) is characterized by congenital hypotonia, areflexia, and evidence of degeneration and loss of anterior horn cells (i.e., lower motor neurons) in the spinal cord and brain stem. Often congenital contractures and/or fractures are present. Intellect is normal. Life span is significantly shortened because of progressive ventilatory insufficiency resulting from chest muscle involvement.
X-linked distal spinal muscular atrophy type 3
MedGen UID:
335168
Concept ID:
C1845359
Disease or Syndrome
A rare distal hereditary motor neuropathy with characteristics of slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.
Neuronopathy, distal hereditary motor, autosomal recessive 3
MedGen UID:
337659
Concept ID:
C1846823
Disease or Syndrome
Autosomal recessive distal hereditary motor neuronopathy-3 (HMNR3), also known as distal spinal muscular atrophy (DSMA) and distal hereditary motor neuronopathy (dHMN or HMN), is characterized by distal muscle weakness and wasting without significant sensory involvement. For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320). Harding (1993) classified autosomal recessive distal hereditary motor neuronopathy as dHMN IV (HMN4) and dHMN III (HMN3). Both have juvenile onset and differ only by less severe involvement in HMN3. However, Viollet et al. (2004) reported an extended Lebanese kindred in which both HMN III and HMN IV occurred, suggesting that the same gene was involved in both phenotypes (see Irobi et al., 2006).
Spinal muscular atrophy, Ryukyuan type
MedGen UID:
376517
Concept ID:
C1849102
Disease or Syndrome
Spinal muscular atrophy with intellectual disability
MedGen UID:
376518
Concept ID:
C1849109
Disease or Syndrome
Autosomal recessive distal spinal muscular atrophy 2
MedGen UID:
344189
Concept ID:
C1854023
Disease or Syndrome
Autosomal recessive distal hereditary motor neuronopathy-2 (HMNR2) is a neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade; there is no sensory involvement (summary by Li et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320).
Adult-onset proximal spinal muscular atrophy, autosomal dominant
MedGen UID:
340120
Concept ID:
C1854058
Disease or Syndrome
Spinal muscular atrophy is characterized by degeneration of the anterior horn cells in the spinal cord, leading to symmetric muscle weakness and wasting. See also autosomal recessive adult-onset proximal spinal muscular atrophy (SMA4; 271150), caused by defect in the SMN1 gene (600354), and autosomal dominant childhood-onset proximal SMA (158600).
Autosomal recessive distal spinal muscular atrophy 1
MedGen UID:
388083
Concept ID:
C1858517
Disease or Syndrome
Autosomal recessive distal hereditary motor neuronopathy-1 (HMNR1) is characterized by distal and proximal muscle weakness and diaphragmatic palsy that leads to respiratory distress. Without intervention, most infants with the severe form of the disease die before 2 years of age. Affected individuals present in infancy with inspiratory stridor, weak cry, recurrent bronchopneumonia, and swallowing difficulties. The disorder is caused by distal and progressive motor neuronopathy resulting in muscle weakness (summary by Perego et al., 2020). Genetic Heterogeneity of Autosomal Recessive Distal Hereditary Motor Neuronopathy See also HMNR2 (605726), caused by mutation in the SIGMAR1 gene (601978); HMNR3 (607088) (encompassing Harding HMN types III and IV), which maps to chromosome 11q13; HMNR4 (611067), caused by mutation in the PLEKHG5 gene (611101); HMNR5 (614881), caused by mutation in the DNAJB2 gene (604139); HMNR6 (620011), caused by mutation in the REEP1 gene (609139); HMNR7 (619216), caused by mutation in the VWA1 gene (611901); HMNR8 (618912), caused by mutation in the SORD gene (182500); HMNR9 (620402), caused by mutation in the COQ7 gene (601683); HMNR10 (620542), caused by mutation in the VRK1 gene (602168); and HMNR11 (620854), caused by mutation in the RTN2 gene (603183).
Spinal muscular atrophy, facioscapulohumeral type
MedGen UID:
357136
Concept ID:
C1866783
Disease or Syndrome
Neuronopathy, distal hereditary motor, autosomal recessive 4
MedGen UID:
369682
Concept ID:
C1970211
Disease or Syndrome
A rare genetic neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported. There is evidence the disease is caused by homozygous mutation in the gene encoding pleckstrin homology domain-containing protein, family G member 5 (PLEKHG5) on chromosome 1p36.
Lower motor neuron syndrome with late-adult onset
MedGen UID:
767312
Concept ID:
C3554398
Disease or Syndrome
CHCHD10-related disorders are characterized by a spectrum of adult-onset neurologic phenotypes that can include: Mitochondrial myopathy (may also be early onset): weakness, amyotrophy, exercise intolerance. Amyotrophic lateral sclerosis (ALS): progressive degeneration of upper motor neurons and lower motor neurons. Frontotemporal dementia (FTD): slowly progressive behavioral changes, language disturbances, cognitive decline, extrapyramidal signs. Late-onset spinal motor neuronopathy (SMA, Jokela type): weakness, cramps, and/or fasciculations; areflexia. Axonal Charcot-Marie-Tooth neuropathy: slowly progressive lower-leg muscle weakness and atrophy, small hand muscle weakness, loss of tendon reflexes, sensory abnormalities. Cerebellar ataxia: gait ataxia, kinetic ataxia (progressive loss of coordination of lower- and upper-limb movements), dysarthria/dysphagia, nystagmus, cerebellar oculomotor disorder. Because of the recent discovery of CHCHD10-related disorders and the limited number of affected individuals reported to date, the natural history of these disorders (except for SMAJ caused by the p.Gly66Val pathogenic variant) is largely unknown.
Neuronopathy, distal hereditary motor, type 2D
MedGen UID:
854832
Concept ID:
C3888271
Disease or Syndrome
Autosomal dominant distal hereditary motor neuronopathy-6 (HMND6) is a neurologic disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal (summary by Sumner et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant distal HMN (dHMN), see HMND1 (182960).
Pontocerebellar hypoplasia, type 1C
MedGen UID:
863597
Concept ID:
C4015160
Disease or Syndrome
Pontocerebellar hypoplasia type 1C is a severe autosomal recessive neurodegenerative disorder characterized by severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants showed delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination (summary by Boczonadi et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).
Spinal muscular atrophy with congenital bone fractures 2
MedGen UID:
907910
Concept ID:
C4225176
Disease or Syndrome
Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by Knierim et al., 2016). For a discussion of genetic heterogeneity of spinal muscular atrophy with congenital bone fractures, see SMABF1 (616866).
Spinal muscular atrophy with congenital bone fractures 1
MedGen UID:
896011
Concept ID:
C4225177
Disease or Syndrome
Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone Fractures See also SMABF2 (616867), caused by mutation in the ASCC1 gene (614215) on chromosome 10q22.
Encephalopathy, progressive, with amyotrophy and optic atrophy
MedGen UID:
934634
Concept ID:
C4310667
Disease or Syndrome
Progressive encephalopathy with amyotrophy and optic atrophy (PEAMO) is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy (Sferra et al., 2016).
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
MedGen UID:
1669929
Concept ID:
C4747715
Disease or Syndrome
SMALED2A is an autosomal dominant form of spinal muscular atrophy characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life (summary by Oates et al., 2013). For discussion of genetic heterogeneity of lower extremity-predominant spinal muscular atrophy, see SMALED1 (158600).
Neuronopathy, distal hereditary motor, autosomal recessive 5
MedGen UID:
1667915
Concept ID:
C4749918
Disease or Syndrome
HMNR5 is an autosomal recessive neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves. Sensation and cognition are not impaired (summary by Blumen et al., 2012). For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320).
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
MedGen UID:
1830501
Concept ID:
C5780022
Disease or Syndrome
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in muscle weakness. SMALED shows autosomal dominant inheritance with muscle weakness predominantly affecting the proximal lower extremities (Harms et al., 2010). The most common form of SMA (see, e.g., SMA1, 253300) shows autosomal recessive inheritance and is due to mutation in the SMN1 gene (600354) on chromosome 5q. Genetic Heterogeneity of Lower Extremity-Predominant Spinal Muscular Atrophy See also SMALED2A (615290) and SMALED2B (618291), both of which are caused by mutation in the BICD2 gene (609797) on chromosome 9q22. SMALED2A and SMALED2B differ in age at onset and severity, with SMALED2B being more severe.
Werdnig-Hoffmann disease
MedGen UID:
1845578
Concept ID:
C5848259
Disease or Syndrome
Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of this disease.

Professional guidelines

PubMed

Nishio H, Niba ETE, Saito T, Okamoto K, Takeshima Y, Awano H
Int J Mol Sci 2023 Jul 26;24(15) doi: 10.3390/ijms241511939. PMID: 37569314Free PMC Article
Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group
Neuromuscul Disord 2018 Feb;28(2):103-115. Epub 2017 Nov 23 doi: 10.1016/j.nmd.2017.11.005. PMID: 29290580
Mary P, Servais L, Vialle R
Orthop Traumatol Surg Res 2018 Feb;104(1S):S89-S95. Epub 2017 Nov 28 doi: 10.1016/j.otsr.2017.04.019. PMID: 29196274

Curated

American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Exon 7 Deletion (Pathogenic Variant) in Survival Motor Neuron Gene (SMN1), Spinal Muscular Atrophy (SMA), 2020

ACMG Carrier Screening ACT Sheet Spinal Muscular Atrophy (SMA)

Recent clinical studies

Etiology

Erdos J, Wild C
Eur J Paediatr Neurol 2022 Jul;39:1-10. Epub 2022 Apr 30 doi: 10.1016/j.ejpn.2022.04.006. PMID: 35533607
Paik J
CNS Drugs 2022 Apr;36(4):401-410. Epub 2022 Mar 13 doi: 10.1007/s40263-022-00910-8. PMID: 35284988
Chiriboga CA
Expert Rev Neurother 2017 Oct;17(10):955-962. Epub 2017 Sep 8 doi: 10.1080/14737175.2017.1364159. PMID: 28884620
Arnold WD, Kassar D, Kissel JT
Muscle Nerve 2015 Feb;51(2):157-67. Epub 2014 Dec 16 doi: 10.1002/mus.24497. PMID: 25346245Free PMC Article
D'Amico A, Mercuri E, Tiziano FD, Bertini E
Orphanet J Rare Dis 2011 Nov 2;6:71. doi: 10.1186/1750-1172-6-71. PMID: 22047105Free PMC Article

Diagnosis

Oskoui M, Servais L
Continuum (Minneap Minn) 2023 Oct 1;29(5):1564-1584. doi: 10.1212/CON.0000000000001338. PMID: 37851043
Nishio H, Niba ETE, Saito T, Okamoto K, Takeshima Y, Awano H
Int J Mol Sci 2023 Jul 26;24(15) doi: 10.3390/ijms241511939. PMID: 37569314Free PMC Article
Mercuri E, Sumner CJ, Muntoni F, Darras BT, Finkel RS
Nat Rev Dis Primers 2022 Aug 4;8(1):52. doi: 10.1038/s41572-022-00380-8. PMID: 35927425
Paik J
CNS Drugs 2022 Apr;36(4):401-410. Epub 2022 Mar 13 doi: 10.1007/s40263-022-00910-8. PMID: 35284988
Nicolau S, Waldrop MA, Connolly AM, Mendell JR
Semin Pediatr Neurol 2021 Apr;37:100878. Epub 2021 Feb 11 doi: 10.1016/j.spen.2021.100878. PMID: 33892848

Therapy

Day JW, Howell K, Place A, Long K, Rossello J, Kertesz N, Nomikos G
BMC Pediatr 2022 Nov 3;22(1):632. doi: 10.1186/s12887-022-03671-x. PMID: 36329412Free PMC Article
Paik J
CNS Drugs 2022 Apr;36(4):401-410. Epub 2022 Mar 13 doi: 10.1007/s40263-022-00910-8. PMID: 35284988
Bennett CF, Krainer AR, Cleveland DW
Annu Rev Neurosci 2019 Jul 8;42:385-406. doi: 10.1146/annurev-neuro-070918-050501. PMID: 31283897Free PMC Article
Arnold WD, Kassar D, Kissel JT
Muscle Nerve 2015 Feb;51(2):157-67. Epub 2014 Dec 16 doi: 10.1002/mus.24497. PMID: 25346245Free PMC Article
Lunn MR, Wang CH
Lancet 2008 Jun 21;371(9630):2120-33. doi: 10.1016/S0140-6736(08)60921-6. PMID: 18572081

Prognosis

Oskoui M, Servais L
Continuum (Minneap Minn) 2023 Oct 1;29(5):1564-1584. doi: 10.1212/CON.0000000000001338. PMID: 37851043
Erdos J, Wild C
Eur J Paediatr Neurol 2022 Jul;39:1-10. Epub 2022 Apr 30 doi: 10.1016/j.ejpn.2022.04.006. PMID: 35533607
Nance JR
Continuum (Minneap Minn) 2020 Oct;26(5):1348-1368. doi: 10.1212/CON.0000000000000918. PMID: 33003005
Schorling DC, Pechmann A, Kirschner J
J Neuromuscul Dis 2020;7(1):1-13. doi: 10.3233/JND-190424. PMID: 31707373Free PMC Article
D'Amico A, Mercuri E, Tiziano FD, Bertini E
Orphanet J Rare Dis 2011 Nov 2;6:71. doi: 10.1186/1750-1172-6-71. PMID: 22047105Free PMC Article

Clinical prediction guides

Oskoui M, Day JW, Deconinck N, Mazzone ES, Nascimento A, Saito K, Vuillerot C, Baranello G, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Papp G, Gorni K, Kletzl H, Martin C, McIver T, Scalco RS, Staunton H, Yeung WY, Fontoura P, Mercuri E; SUNFISH Working Group
J Neurol 2023 May;270(5):2531-2546. Epub 2023 Feb 3 doi: 10.1007/s00415-023-11560-1. PMID: 36735057Free PMC Article
Erdos J, Wild C
Eur J Paediatr Neurol 2022 Jul;39:1-10. Epub 2022 Apr 30 doi: 10.1016/j.ejpn.2022.04.006. PMID: 35533607
Day JW, Finkel RS, Chiriboga CA, Connolly AM, Crawford TO, Darras BT, Iannaccone ST, Kuntz NL, Peña LDM, Shieh PB, Smith EC, Kwon JM, Zaidman CM, Schultz M, Feltner DE, Tauscher-Wisniewski S, Ouyang H, Chand DH, Sproule DM, Macek TA, Mendell JR
Lancet Neurol 2021 Apr;20(4):284-293. Epub 2021 Mar 17 doi: 10.1016/S1474-4422(21)00001-6. PMID: 33743238
Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, Lowes L, Alfano L, Berry K, Church K, Kissel JT, Nagendran S, L'Italien J, Sproule DM, Wells C, Cardenas JA, Heitzer MD, Kaspar A, Corcoran S, Braun L, Likhite S, Miranda C, Meyer K, Foust KD, Burghes AHM, Kaspar BK
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Chiriboga CA
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Recent systematic reviews

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Pharmacotherapy 2024 Jan;44(1):97-105. Epub 2023 Aug 21 doi: 10.1002/phar.2866. PMID: 37574770
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Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2020
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Exon 7 Deletion (Pathogenic Variant) in Survival Motor Neuron Gene (SMN1), Spinal Muscular Atrophy (SMA), 2020
    • ACMG ACT, 2018
      ACMG Carrier Screening ACT Sheet Spinal Muscular Atrophy (SMA)

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